Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.P73delFs

TFAP2B

106 papers

RefSeq Summary

This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to st...

Pfam Domains

TF_AP-2aa 230–424UCSCTranscription factor AP-2

Gene Aliases

HGNC Name

transcription factor AP-2 beta

HGNC Alias Symbols

AP2-B; AP-2beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003221.4
p.P73delFs
c.219delC
Surrounding Variants
2 papers
NM_003221.4
p.P73fs
c.217_218fs
1 paper
NM_003221.4
p.P73R
c.218C>G
1 paper
NM_003221.4
p.Y74S
c.221A>C
1 paper
NM_003221.4
p.S62W
c.185C>G
1 paper
NM_003221.4
p.P56L
c.167C>T
1 paper
NM_003221.4
p.P55L
c.164C>T
2 papers
NM_003221.4
p.V89I
c.265G>A
1 paper
NM_003221.4
p.A54T
c.160G>A
1 paper
NM_003221.4
p.P50P
c.150C>A
1 paper
NM_003221.4
p.S94S
c.282C>T
1 paper
NM_003221.4
p.H99Y
c.295C>T
1 paper
NM_003221.4
p.S41S
c.123C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."